Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02522:Magi1'

296906

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magi1

Ensembl Gene

ENSMUSG00000045095

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 1

Synonyms

Baiap1, Gukmi1, AIP3, BAP1, WWP3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

IGL02522

Quality Score

Status

Chromosome

Chromosomal Location

93652436-94260898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93655617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1127 (D1127G)

Ref Sequence

ENSEMBL: ENSMUSP00000091283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055224] [ENSMUST00000089317] [ENSMUST00000093769] [ENSMUST00000203519] [ENSMUST00000203688] [ENSMUST00000204347] [ENSMUST00000204532]

AlphaFold

Q6RHR9

Predicted Effect

probably benign
Transcript: ENSMUST00000055224

SMART Domains

Protein: ENSMUSP00000062085
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	348	380	2.88e-9	SMART
low complexity region	390	402	N/A	INTRINSIC
low complexity region	410	428	N/A	INTRINSIC
PDZ	460	536	3.71e-18	SMART
PDZ	631	703	4.68e-15	SMART
low complexity region	707	714	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
PDZ	800	876	4.64e-19	SMART
low complexity region	920	942	N/A	INTRINSIC
PDB:1UEW\|A	945	977	2e-6	PDB
PDZ	1043	1117	1.26e-20	SMART
low complexity region	1152	1164	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089317
AA Change: D1343G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000086730
Gene: ENSMUSG00000045095
AA Change: D1343G

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1074	6.1e-25	SMART
PDZ	1140	1214	6.1e-23	SMART
low complexity region	1347	1357	N/A	INTRINSIC
low complexity region	1366	1423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093769
AA Change: D1127G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091283
Gene: ENSMUSG00000045095
AA Change: D1127G

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
WW	74	106	9.65e-11	SMART
WW	133	165	2.88e-9	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	3.71e-18	SMART
PDZ	416	488	4.68e-15	SMART
low complexity region	492	499	N/A	INTRINSIC
low complexity region	505	518	N/A	INTRINSIC
PDZ	613	689	4.64e-19	SMART
low complexity region	733	755	N/A	INTRINSIC
PDZ	771	858	2.3e-23	SMART
PDZ	924	998	1.26e-20	SMART
low complexity region	1131	1141	N/A	INTRINSIC
low complexity region	1150	1207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203519

SMART Domains

Protein: ENSMUSP00000145244
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
PDZ	26	105	8.04e-5	SMART
GuKc	111	295	2.55e-49	SMART
WW	301	333	9.65e-11	SMART
WW	360	392	2.88e-9	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	3.71e-18	SMART
PDZ	643	715	4.68e-15	SMART
low complexity region	719	726	N/A	INTRINSIC
low complexity region	732	745	N/A	INTRINSIC
PDZ	812	888	4.64e-19	SMART
low complexity region	932	954	N/A	INTRINSIC
PDB:1UEW\|A	957	989	2e-6	PDB
PDZ	1055	1115	1.13e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203688

SMART Domains

Protein: ENSMUSP00000145515
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
Pfam:MAGI_u1	1	34	2.9e-17	PFAM
WW	74	106	9.65e-11	SMART
WW	133	165	2.88e-9	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	3.71e-18	SMART
PDZ	416	488	4.68e-15	SMART
low complexity region	506	519	N/A	INTRINSIC
PDZ	614	690	4.64e-19	SMART
low complexity region	734	756	N/A	INTRINSIC
PDZ	772	858	1.74e-23	SMART
PDZ	924	998	1.26e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204347

SMART Domains

Protein: ENSMUSP00000144881
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
PDZ	26	105	4e-7	SMART
GuKc	111	295	1.3e-51	SMART
WW	301	333	5.8e-13	SMART
WW	360	392	1.7e-11	SMART
low complexity region	402	414	N/A	INTRINSIC
low complexity region	422	440	N/A	INTRINSIC
PDZ	472	548	1.9e-20	SMART
PDZ	643	715	2.3e-17	SMART
low complexity region	733	746	N/A	INTRINSIC
PDZ	841	917	2.4e-21	SMART
low complexity region	961	983	N/A	INTRINSIC
PDZ	999	1086	1.1e-25	SMART
PDZ	1152	1226	6.1e-23	SMART
low complexity region	1261	1273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204532

SMART Domains

Protein: ENSMUSP00000144769
Gene: ENSMUSG00000045095

Domain	Start	End	E-Value	Type
Pfam:MAGI_u1	1	34	1.8e-14	PFAM
WW	74	106	5.8e-13	SMART
WW	133	165	1.7e-11	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	195	213	N/A	INTRINSIC
PDZ	245	321	1.9e-20	SMART
PDZ	416	488	7.3e-17	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(165) : Targeted(2) Gene trapped(163)

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 78,903,633 (GRCm39)	S228P	probably benign	Het
Apba1	T	C	19: 23,889,809 (GRCm39)		probably benign	Het
Arel1	T	C	12: 84,974,684 (GRCm39)	D486G	probably damaging	Het
Celf1	T	C	2: 90,839,646 (GRCm39)	V357A	possibly damaging	Het
Chd6	T	C	2: 160,807,716 (GRCm39)	S1833G	probably benign	Het
Ctsa	T	C	2: 164,681,061 (GRCm39)		probably benign	Het
Dclk2	G	A	3: 86,827,423 (GRCm39)	P19S	probably benign	Het
Dpp10	T	C	1: 123,351,381 (GRCm39)	H308R	probably benign	Het
Dst	A	T	1: 34,289,781 (GRCm39)		probably benign	Het
Enpp2	A	T	15: 54,762,336 (GRCm39)	M201K	probably damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Grip1	A	G	10: 119,767,154 (GRCm39)	D93G	probably damaging	Het
Hipk3	T	C	2: 104,301,676 (GRCm39)	K172R	probably damaging	Het
Hrob	T	C	11: 102,148,746 (GRCm39)	S386P	possibly damaging	Het
Iqgap3	A	G	3: 88,015,705 (GRCm39)	N29S	possibly damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Pkhd1l1	A	T	15: 44,419,298 (GRCm39)	D2921V	possibly damaging	Het
Pla2r1	T	A	2: 60,259,013 (GRCm39)	Y1125F	probably benign	Het
Psg20	T	A	7: 18,416,356 (GRCm39)	L253F	probably benign	Het
Rdx	A	G	9: 51,979,504 (GRCm39)	K209R	possibly damaging	Het
Rpsa	A	T	9: 119,960,121 (GRCm39)	Q228L	possibly damaging	Het
Slc10a5	T	C	3: 10,400,181 (GRCm39)	I160V	probably benign	Het
Tec	C	T	5: 72,946,515 (GRCm39)	V71I	probably benign	Het
Tln1	T	C	4: 43,540,612 (GRCm39)	E1463G	probably benign	Het
Trim12a	C	T	7: 103,950,038 (GRCm39)		probably null	Het
Vcan	G	T	13: 89,852,968 (GRCm39)	T664K	probably benign	Het

Other mutations in Magi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Magi1	APN	6	94,260,074 (GRCm39)	missense	possibly damaging	0.86
IGL01457:Magi1	APN	6	93,724,205 (GRCm39)	missense	probably damaging	0.99
IGL01642:Magi1	APN	6	93,663,605 (GRCm39)	missense	possibly damaging	0.69
IGL01724:Magi1	APN	6	93,769,381 (GRCm39)	splice site	probably null
IGL01967:Magi1	APN	6	93,685,115 (GRCm39)	missense	probably damaging	1.00
IGL01984:Magi1	APN	6	93,685,155 (GRCm39)	missense	probably damaging	1.00
IGL02074:Magi1	APN	6	93,722,579 (GRCm39)	missense	probably damaging	1.00
IGL02098:Magi1	APN	6	93,655,768 (GRCm39)	missense	probably damaging	1.00
IGL02225:Magi1	APN	6	93,671,007 (GRCm39)	missense	probably damaging	1.00
IGL02659:Magi1	APN	6	93,762,591 (GRCm39)	missense	possibly damaging	0.68
IGL02900:Magi1	APN	6	93,663,854 (GRCm39)	missense	probably damaging	1.00
P0007:Magi1	UTSW	6	93,722,969 (GRCm39)	missense	probably damaging	1.00
R0149:Magi1	UTSW	6	93,724,226 (GRCm39)	missense	probably damaging	1.00
R0512:Magi1	UTSW	6	93,671,045 (GRCm39)	missense	probably damaging	1.00
R1487:Magi1	UTSW	6	93,685,060 (GRCm39)	missense	probably benign	0.00
R1497:Magi1	UTSW	6	93,724,310 (GRCm39)	missense	probably damaging	1.00
R1502:Magi1	UTSW	6	93,671,151 (GRCm39)	missense	probably damaging	1.00
R1824:Magi1	UTSW	6	93,676,620 (GRCm39)	missense	possibly damaging	0.94
R2042:Magi1	UTSW	6	93,732,026 (GRCm39)	missense	probably benign
R2132:Magi1	UTSW	6	93,674,255 (GRCm39)	missense	probably damaging	0.99
R2331:Magi1	UTSW	6	93,662,543 (GRCm39)	missense	probably damaging	1.00
R2418:Magi1	UTSW	6	93,722,891 (GRCm39)	missense	probably damaging	1.00
R3076:Magi1	UTSW	6	93,734,668 (GRCm39)	missense	possibly damaging	0.63
R3551:Magi1	UTSW	6	93,676,610 (GRCm39)	missense	probably damaging	0.98
R4005:Magi1	UTSW	6	93,678,299 (GRCm39)	missense	probably damaging	1.00
R4455:Magi1	UTSW	6	93,762,438 (GRCm39)	missense	probably damaging	1.00
R4670:Magi1	UTSW	6	93,663,624 (GRCm39)	splice site	probably null
R4671:Magi1	UTSW	6	93,657,768 (GRCm39)	critical splice donor site	probably null
R4839:Magi1	UTSW	6	93,671,177 (GRCm39)	missense	probably damaging	1.00
R5132:Magi1	UTSW	6	93,660,072 (GRCm39)	critical splice acceptor site	probably null
R5147:Magi1	UTSW	6	93,724,248 (GRCm39)	missense	probably damaging	1.00
R5525:Magi1	UTSW	6	93,769,354 (GRCm39)	missense	possibly damaging	0.95
R5724:Magi1	UTSW	6	93,722,682 (GRCm39)	missense	probably damaging	1.00
R5724:Magi1	UTSW	6	93,657,852 (GRCm39)	missense	probably benign	0.03
R5846:Magi1	UTSW	6	93,662,584 (GRCm39)	missense	probably damaging	1.00
R5896:Magi1	UTSW	6	93,685,180 (GRCm39)	missense	probably damaging	1.00
R5912:Magi1	UTSW	6	93,685,126 (GRCm39)	missense	possibly damaging	0.95
R6112:Magi1	UTSW	6	93,722,571 (GRCm39)	missense	probably damaging	1.00
R6115:Magi1	UTSW	6	93,685,051 (GRCm39)	missense	possibly damaging	0.64
R6351:Magi1	UTSW	6	93,920,210 (GRCm39)	missense	possibly damaging	0.82
R6355:Magi1	UTSW	6	94,260,177 (GRCm39)	missense	probably benign	0.06
R6457:Magi1	UTSW	6	93,676,620 (GRCm39)	missense	probably damaging	1.00
R6464:Magi1	UTSW	6	93,676,770 (GRCm39)	missense	probably damaging	1.00
R6613:Magi1	UTSW	6	93,722,654 (GRCm39)	missense	probably damaging	1.00
R6661:Magi1	UTSW	6	93,920,289 (GRCm39)	missense	probably benign	0.08
R6755:Magi1	UTSW	6	93,685,158 (GRCm39)	missense	probably damaging	1.00
R6909:Magi1	UTSW	6	93,674,301 (GRCm39)	missense	probably damaging	1.00
R7180:Magi1	UTSW	6	93,792,731 (GRCm39)	missense	probably benign	0.10
R7224:Magi1	UTSW	6	93,660,070 (GRCm39)	missense	probably benign	0.34
R7447:Magi1	UTSW	6	93,722,562 (GRCm39)	missense	possibly damaging	0.63
R7517:Magi1	UTSW	6	93,685,189 (GRCm39)	missense	probably damaging	0.99
R7537:Magi1	UTSW	6	93,685,091 (GRCm39)	nonsense	probably null
R7549:Magi1	UTSW	6	93,685,095 (GRCm39)	missense	probably benign	0.19
R7566:Magi1	UTSW	6	93,655,308 (GRCm39)	missense	probably benign	0.03
R7805:Magi1	UTSW	6	93,659,927 (GRCm39)	missense	probably benign
R8022:Magi1	UTSW	6	93,674,346 (GRCm39)	missense	probably damaging	1.00
R8290:Magi1	UTSW	6	94,260,066 (GRCm39)	missense	probably damaging	1.00
R8519:Magi1	UTSW	6	93,681,330 (GRCm39)	missense	possibly damaging	0.83
R8762:Magi1	UTSW	6	93,792,789 (GRCm39)	nonsense	probably null
R8894:Magi1	UTSW	6	93,663,586 (GRCm39)	missense	probably benign	0.12
R8974:Magi1	UTSW	6	93,674,223 (GRCm39)	missense	probably damaging	1.00
R9225:Magi1	UTSW	6	93,762,511 (GRCm39)	missense	possibly damaging	0.64
R9277:Magi1	UTSW	6	93,920,234 (GRCm39)	missense	possibly damaging	0.48
R9300:Magi1	UTSW	6	93,724,209 (GRCm39)	missense	probably damaging	1.00
R9393:Magi1	UTSW	6	93,659,890 (GRCm39)	missense	probably benign	0.27
R9402:Magi1	UTSW	6	94,260,278 (GRCm39)	missense	probably benign	0.00
R9432:Magi1	UTSW	6	93,660,058 (GRCm39)	missense	probably damaging	1.00
R9567:Magi1	UTSW	6	93,659,931 (GRCm39)	critical splice donor site	probably null
R9567:Magi1	UTSW	6	93,655,431 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16